Varaico: Literature-Extracted Genetic Variants

TRPS1

238 papers

RefSeq Summary

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding...

Pfam Domains

Znf_C2H2_Trps1_1staa 216–271UCSCTrps1 zinc finger C2H2-type 1

Znf_C2H2_Trps1_2ndaa 308–363UCSCTrps1 zinc finger C2H2-type 2

Znf_C2H2_Trps1_3rdaa 401–460UCSCTrps1 zinc finger C2H2-type 3

Znf_C2H2_Trps1_4thaa 519–598UCSCTrps1 zinc finger C2H2-type 4

Znf_C2H2_Trps1_5thaa 611–642UCSCTrps1 zinc finger C2H2-type 5

GATAaa 896–930UCSCGATA zinc finger

Gene Aliases

HGNC Name

transcriptional repressor GATA binding 1

HGNC Alias Symbols

LGCR; GC79

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014112.5

p.C1233R

c.3697T>C

Surrounding Variants

2 papers

NM_014112.5

p.C1233Y

c.3698G>A

1 paper

NM_014112.5

p.V1231M

c.3691G>A

2 papers

NM_014112.5

p.H1246R

c.3737A>G

1 paper

NM_014112.5

p.V1218F

c.3652G>T

1 paper

NM_014112.5

p.E1216*

c.3646G>T

1 paper

NM_014112.5

p.D1252G

c.3755A>G

1 paper

NM_014112.5

p.N1206fs

c.3616_3617fs

1 paper

NM_014112.5

p.N1206delFs

c.3617delT

1 paper

NM_014112.5

p.N1203T

c.3608A>C

1 paper

NM_014112.5

p.C1265F

c.3794G>T

1 paper

NM_014112.5

p.C1265S

c.3794G>C

1 paper

NM_014112.5

p.D1270_F1271delins

c.3809_3811delinsCATGTTGTG